TY  - JOUR
A1  - Mazzarella, Richard
A1  - Schlessinger, David
T1  - Pathological Consequences of Sequence Duplications in the Human Genome
Y1  - 1998/10/01 
JF  - Genome Research 
JO  - Genome Research 
SP  - 1007 
EP  - 1021 
DO  - 10.1101/gr.8.10.1007 
VL  - 8 
IS  - 10 
UR  - http://genome.cshlp.org/content/8/10/1007.abstract 
N2  - As large-scale sequencing accumulates momentum, an increasing number of instances are being revealed in which genes or other relatively rare sequences are duplicated, either in tandem or at nearby locations. Such duplications are a source of considerable polymorphism in populations, and also increase the evolutionary possibilities for the coregulation of juxtaposed sequences. As a further consequence, they promote inversions and deletions that are responsible for significant inherited pathology. Here we review known examples of genomic duplications present on the human X chromosome and autosomes. 
ER  -